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rs11571746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2
(C;T) 1 Benign or at worst a very minor risk factor
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome13
Position32370971
GeneBRCA2
is asnp
is mentioned by
dbSNPrs11571746
dbSNP (classic)rs11571746
ClinGenrs11571746
ebirs11571746
HLIrs11571746
Exacrs11571746
Gnomadrs11571746
Varsomers11571746
LitVarrs11571746
Maprs11571746
PheGenIrs11571746
Biobankrs11571746
1000 genomesrs11571746
hgdprs11571746
ensemblrs11571746
geneviewrs11571746
scholarrs11571746
googlers11571746
pharmgkbrs11571746
gwascentralrs11571746
openSNPrs11571746
23andMers11571746
SNPshotrs11571746
SNPdbers11571746
MSV3drs11571746
GWAS Ctlgrs11571746
GMAF0.0009183
Max Magnitude2

aka c.8503T>C (p.Ser2835Pro)

? (C;C) (C;T) (T;T) 28


This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (C).

23andMe name: i5009299

ClinVar
Risk Rs11571746(C;C)
Alt Rs11571746(C;C)
Reference Rs11571746(T;T)
Significance Other
Disease Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32945108T>C
CLNSRC Ambry Genetics ClinVar Counsyl GeneDx
CLNACC RCV000113950.4, RCV000120364.6, RCV000129146.2, RCV000167840.7,